Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome - ScienceDirect

Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delayed osseous maturation, expressive-language deficits, and a dis…

The Human SRCAP Chromatin Remodeling Complex Promotes DNA-End Resection - ScienceDirect

Single Amino Acid Change Underlies Distinct Roles of H2A.Z Subtypes in Human Syndrome - ScienceDirect

PDF) Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome

Znhit1 controls meiotic initiation in male germ cells by coordinating with Stra8 to activate meiotic gene expression - ScienceDirect

The H2A.Z-nucleosome code in mammals: emerging functions: Trends in Genetics

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios - ScienceDirect

PDF) Mendelian disorders of the epigenetic machinery: tipping the balance of chromatin states

The ATPase SRCAP is associated with the mitotic apparatus, uncovering novel molecular aspects of Floating-Harbor syndrome, BMC Biology

Single Amino Acid Change Underlies Distinct Roles of H2A.Z Subtypes in Human Syndrome - ScienceDirect

Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes - ScienceDirect

H2A.Z's 'social' network: functional partners of an enigmatic histone variant: Trends in Biochemical Sciences

Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes - ScienceDirect

PDF) Generation of an iPSC line (UMGWi001-B) from a patient with Floating-Harbor Syndrome (FLHS) carrying a heterozygous SRCAP mutation (p.Arg2444)